Song Lan

Identification of CDK5RAP2 as a causative gene of focal epilepsy without microcephaly

Li Xiao, Hui Sun, Yang Tian, Song Lan et autres

cn (code pays fourni par la source)

Missense variants in SLC9A6 cause partial epilepsy without neurodevelopmental delay

Junping Jiao, Hongwei Zhang, Xi-zhong Zhou, Shujuan Tian et autres

BACKGROUND: The SLC9A6 gene encodes a monovalent sodium-selective sodium/hydrogen exchanger that is essential in regulating endosomal PH and volume. SLC9A6 variants are associated with Christianson Syndrome, a severe neurodevelopmental disorder that is accompanied by seizures. It is unknown whether SLC9A6 variants are …

cn, ir (code pays fourni par la source)

Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders

Sheng Luo, Pengyu Wang, Peng Zhou, Wenjun Zhang et autres

cn (code pays fourni par la source)

Efficacy and safety of perampanel as the first add-on therapy for children with epilepsy: A real-world multicenter prospective observational study

Jiahui Mai, Hua Li, Yinghui He, Tieshuan Huang et autres

cn (code pays fourni par la source)

De novo GABRA1 variants in childhood epilepsies and the molecular subregional effects

Wenhui Liu, Sheng Luo, Dongming Zhang, Zi-sheng Lin et autres

Background The GABRA1 gene, encoding the GABRAR subunit α1, plays vital roles in inhibitory neurons. Previously, the GABRA1 gene has been identified to be associated with developmental and epileptic encephalopathy (DEE) and idiopathic generalized epilepsy (IGE). This study aims to explore the …

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DLG3 variants caused X-linked epilepsy with/without neurodevelopmental disorders and the genotype-phenotype correlation

Yunyan He, Sheng Luo, Liang Jin, Peng‐Yu Wang et autres

Background The DLG3 gene encodes disks large membrane-associated guanylate kinase scaffold protein 3, which plays essential roles in the clustering of N-methyl-D-aspartate receptors (NMDARs) at excitatory synapses. Previously, DLG3 has been identified as the causative gene of X-linked intellectual developmental disorder—90 (XLID-90; …

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ATP6V1A variants are associated with childhood epilepsy with favorable outcome

Bin Li, Song Lan, Xiao‐Rong Liu, Jing-Jing Ji et autres

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Variants inBSNgene associated with epilepsy with favourable outcome

Tingting Ye, Jiwei Zhang, Jie Wang, Song Lan et autres

Background BSNgene encodes Bassoon, an essential protein to assemble the cytomatrix at the active zone of neurotransmitter release. This study aims to explore the relationship betweenBSNvariants and epilepsy. Methods Whole-exome sequencing was performed in a cohort of 313 cases (trios) with epilepsies …

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Efficacy comparison of oxcarbazepine and levetiracetam monotherapy among patients with newly diagnosed focal epilepsy in China: A multicenter, open‐label, randomized study

Haoyue Zhu, Xuejun Deng, Li Feng, Yajun Lian et autres

AIMS: This multicenter, open-label, randomized study (Registration No. ChiCTR-OCH-14004528) aimed to compare the efficacy and effects of oxcarbazepine (OXC) with levetiracetam (LEV) as monotherapies on patient quality of life and mental health for patients with newly diagnosed focal epilepsy from China. METHODS: …

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